Linked Data
ClinVar Variation Id:
403612
ClinVar RCV Id:
RCV000455085
dbSNP Id:
rs114147582
ExAC:
2:167992482 G / A
gnomAD v2:
2-167992482-G-A
gnomAD v3:
2-167135972-G-A
gnomAD v4:
2-167135972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167135972G>A , CM000664.2:g.167135972G>A | GRCh38 |
| NC_000002.11:g.167992482G>A , CM000664.1:g.167992482G>A | GRCh37 |
| NC_000002.10:g.167700728G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409195.6:c.472G>A (XIRP2) MANE Select | ENSP00000386840.2:p.Glu158Lys | |
| ENST00000672277.1:n.28G>A (XIRP2) | ||
| ENST00000672716.1:c.496G>A (XIRP2) | ENSP00000500725.1:p.Glu166Lys | |
| ENST00000409043.5:c.472G>A (XIRP2) | ENSP00000386454.1:p.Glu158Lys | |
| ENST00000409195.5:c.472G>A (XIRP2) | ENSP00000386840.1:p.Glu158Lys | |
| ENST00000409728.5:c.472G>A (XIRP2) | ENSP00000386619.1:p.Glu158Lys | |
| ENST00000628543.2:c.-54G>A (XIRP2) | ENSP00000486198.1:n.-54G>A | |
| NM_001079810.3:c.472G>A (XIRP2) | NP_001073278.1:p.Glu158Lys | |
| NM_001199143.1:c.472G>A (XIRP2) | NP_001186072.1:p.Glu158Lys | |
| NM_152381.5:c.472G>A (XIRP2) | NP_689594.4:p.Glu158Lys | |
| NR_046665.1:n.154+4830C>T (XIRP2-AS1) | ||
| NM_152381.6:c.472G>A (XIRP2) MANE Select | NP_689594.4:p.Glu158Lys | |
| NM_001079810.4:c.472G>A (XIRP2) | NP_001073278.1:p.Glu158Lys | |
| NM_001199143.2:c.472G>A (XIRP2) | NP_001186072.1:p.Glu158Lys |